Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome: genes and variants
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome is linked to 1 analyzed protein (ATP1A3). 18 DNA variants are known to cause it; 9 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
ATP1A3: Sodium/potassium-transporting ATPase subunit alpha-3
It rapidly restores neuronal sodium and potassium gradients after repetitive firing, making it particularly important in highly active neurons. Pathogenic variants cause overlapping syndromes including alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and CAPOS syndrome.
18 disease-causing and 9 uncertain variants in ATP1A3 are linked to Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome.
Where Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome variants cluster
- ATP1A3 Transmembrane (positions 307–345): 3 of 18 disease-causing changes, 4.3× more than its size predicts.
Known disease-causing variants in Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ATP1A3 R756C | 756 | Cytoplasmic | Disease-causing (★★) |
| ATP1A3 G947R | 947 | Transmembrane | Disease-causing (★★) |
| ATP1A3 G947W | 947 | Transmembrane | Disease-causing (★★) |
| ATP1A3 P323S | 323 | Transmembrane | Disease-causing (★★) |
| ATP1A3 E324G | 324 | Transmembrane | Disease-causing (★★) |
| ATP1A3 G325D | 325 | Transmembrane | Disease-causing (★★) |
| ATP1A3 G358D | 358 | Cytoplasmic | Disease-causing (★★) |
| ATP1A3 E818K | 818 | Cytoplasmic | Disease-causing (★★) |
| ATP1A3 Q851R | 851 | Transmembrane | Disease-causing (★★) |
| ATP1A3 D923N | 923 | Transmembrane | Disease-causing (★★) |
| ATP1A3 M154V | 154 | Cytoplasmic | Disease-causing (★★) |
| ATP1A3 G706R | 706 | Cytoplasmic | Disease-causing (★★) |
| ATP1A3 D742Y | 742 | Cytoplasmic | Disease-causing (★★) |
| ATP1A3 T771I | 771 | Transmembrane | Disease-causing (★) |
| ATP1A3 G848A | 848 | Transmembrane | Disease-causing (★) |
| ATP1A3 C927Y | 927 | Transmembrane | Disease-causing (★) |
| ATP1A3 G89C | 89 | Cytoplasmic | Disease-causing (★) |
| ATP1A3 R756L | 756 | Cytoplasmic | Disease-causing |
Same protein, different disease
- Alternating hemiplegia of childhood is also caused by ATP1A3 variants; they fall mostly in different places as the Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome variants (23 disease-causing).
- ATP1A3-associated neurological disorder is also caused by ATP1A3 variants; they fall partly in the same places as the Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome variants (4 disease-causing).
Diseases related to Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- Alternating hemiplegia of childhood, also linked to ATP1A3
- ATP1A3-associated neurological disorder, also linked to ATP1A3
- Hereditary ataxia, also linked to ATP1A3
- Dystonic disorder, also linked to ATP1A3
Frequently asked questions
Which genes are linked to Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome?
In CATVariant, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome is linked to 1 analyzed protein: ATP1A3 (Sodium/potassium-transporting ATPase subunit alpha-3).
How many genetic variants are linked to Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome?
34 variants: 18 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 9 are of uncertain significance or have conflicting reports.
Which uncertain variants in Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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